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familial adult myoclonic epilepsy 7

http://purl.obolibrary.org/obo/DOID_0111694

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

familial adult myoclonic epilepsy 7

Synonyms

BAFME7
FAME7
FCMTE7
benign adult familial myoclonic epilepsy 7
familial cortical myoclonic tremor and epilepsy 7

database cross reference

has obo namespace

disease_ontology

DOID:0111694

Term relations

Subclass of:

autosomal dominant disease
familial adult myoclonic epilepsy
has material basis in some autosomal dominant inheritance